Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Recently mutations in IRF2BPL gene with a complex neurological phenotype including combination of progressive neurodevelopmental delay, seizures, cerebellar ataxia, dystonia and pyramidal signs were reported in 2 independent studies [1,2].

Source: Parkinsonism and Related Disorders - January 24, 2019 Category: Neurology Authors: Matej Skorvanek, Petr Dusek, Malgorzata Rydzanicz, Anna Walczak, Joanna Kosinska, Grazyna Kostrzewa, Malgorzata Brzozowska, Vladimir Han, Petra Dosekova, Zuzana Gdovinova, Zdenka Lehotska, Pawel Lisowski, Rafal Ploski Tags: Correspondence Source Type: research